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1

Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses

Bradley, Linda A., Palomaki, Glenn E., Knight, George J., Haddow, James E., Optiz, John M., Irons, Mira, Kelley, Richard I., Tint, G. Stephen

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 76 KB

english, 1999

2

Effect of ursodeoxycholic acid on bile acid metabolism in primary biliary cirrhosis

Dr. Ashok K. Batta, Gerald Salen, Renu Arora, Sarah Shefer, G. Stephen Tint, John Abroon, David Eskreis, Seymour Katz

Journal:

Year:

1989

Language:

english

File:

PDF, 571 KB

english, 1989

3

Rapid identification of smith-lemlip-opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-Δ7-reductase activity in fibroblasts

Sarah Shefer, Gerald Salen, Akira Honda, Ashok Batta, Susan Hauser, G.Stephen Tint, Megumi Honda, Thomas Chen, Michael F. Holick, Lien B. Nguyen

Journal:

Year:

1997

Language:

english

File:

PDF, 779 KB

english, 1997

4

Changes in Serum Bile Acids in Normal Human Subjects following the Adoption of a Low-Fat Diet

CHARLES P. MARTUCCI, DANIEL G. MILLER, BARBARA LEVINE, G. STEPHEN TINT, JACK FISHMAN

Journal:

Annals of the New York Academy of Sciences

Year:

1995

Language:

english

File:

PDF, 135 KB

english, 1995

5

Technique for the Cinephotomicrographic Study of Etching Phenomena

Tint, G. Stephen, Damiano, Victor V.

Journal:

Review of Scientific Instruments

Year:

1961

Language:

english

File:

PDF, 627 KB

english, 1961

6

Ursodeoxycholic Acid: A Safe and Effective Agent for Dissolving Cholesterol Gallstones

TINT, G. STEPHEN

Journal:

Annals of Internal Medicine

Year:

1982

Language:

english

File:

PDF, 1.15 MB

english, 1982

7

Antenatal Therapy of Smith-Lemli-Opitz Syndrome

Irons, Mira B., Nores, Jose, Stewart, Theresa L., Craigo, Sabrina D., Bianchi, Diana W., D’Alton, Mary E., Tint, G. Stephen, Salen, Gerald, Bradley, Linda A.

Journal:

Fetal Diagnosis and Therapy

Year:

1999

Language:

english

File:

PDF, 239 KB

english, 1999

8

Transformation of Chenodeoxycholic Acid and Ursodeoxycholic Acid by Human Intestinal Bacteria

Fedorowski, Toni, Salen, Gerald, Tint, G. Stephen, Mosbach, Erwin

Journal:

Gastroenterology

Year:

1979

File:

PDF, 640 KB

1979

9

Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: Diagnosis of a biochemically atypical case of the syndrome

Honda, Akira, Tint, G. Stephen, Salen, Gerald, Kelley, Richard I., Honda, Megumi, Batta, Ashok K., Chen, Thomas S., Shefer, Sarah

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 154 KB

english, 1997

10

Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: Rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry

Honda, Akira, Batta, Ashok K., Salen, Gerald, Tint, G. Stephen, Chen, Thomas S., Shefer, Sarah

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 155 KB

english, 1997

11

Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial

Irons, Mira, Elias, Ellen R., Abuelo, Diane, Bull, Marilyn J., Greene, Carol L., Johnson, Virginia P., Keppen, Laura, Schanen, Carolyn, Tint, G. Stephen, Salen, Gerald

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 169 KB

english, 1997

12

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Elias, Ellen R., Irons, Mira B., Hurley, Anne D., Tint, G. Stephen, Salen, Gerald

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 153 KB

english, 1997

13

Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: Further evidence for a link to sonic hedgehog

Lanoue, Louise, Dehart, Deborah B., Hinsdale, Myron E., Maeda, Nobuyo, Tint, G. Stephen, Sulik, Kathleen K.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 518 KB

english, 1997

14

Smith-Lemli-Opitz syndrome in Japan

Tsukahara, Masato, Fujisawa, Keiko, Yamamoto, Kiyomi, Hasui, Masaki, Saito, Chikako, Yamamaka, Tsutomu, Honda, Akira, Honda, Megumi, Tint, G. Stephen, Salen, Gerald, Opitz, John M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 14 KB

english, 1998

15

Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G ? C is found in over sixty percent of US propositi

Yu, Hongwei, Tint, G. Stephen, Salen, Gerald, Patel, Shailendra B.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 272 KB

english, 2000

16

A study on biliary ductal system and bile fistula in the American alligator,Alligator mississippiensis

Xu, Guorong, Elsey, Ruth M., Lance, Valentine A., Javors, Bruce, Chen, Thomas S., Salen, Gerald, Tint, G. Stephen

Journal:

Journal of Experimental Zoology

Year:

1997

Language:

english

File:

PDF, 247 KB

english, 1997

17

Is there a relationship between 3-hydroxy-3-methylglutaryl coenzyme a reductase activity and forebrain pathology in the PKU mouse?

Sarah Shefer, G. Stephen Tint, Danielle Jean-Guillaume, Evgueni Daikhin, Ady Kendler, Lien B. Nguyen, Marc Yudkoff, Charissa A. Dyer

Journal:

Journal of Neuroscience Research

Year:

2000

Language:

english

File:

PDF, 670 KB

english, 2000

18

Metabolism of ursocholic acid in humans: Conversion of ursocholic acid to deoxycholic acid

Dr. G. Stephen Tint, Ashok K. Batta, Bishambar Dayal, Nina Kovell, Sarah Shefer, Gerald Salen

Journal:

Year:

1992

Language:

english

File:

PDF, 623 KB

english, 1992

19

The effect of increased hepatic sitosterol on the regulation of 3-hydroxy-3-methylglutaryl—coenzyme a reductase and cholesterol 7α-hydroxylase in the rat and sitosterolemic homozygotes

Sarah Shefer, Gerald Salen, John Bullock, Lien B. Nguyen, Gene C. Ness, Zhihong Vhao, Peter F. Belamarich, Indu Chowdhary, Susan Lerner, Ashok K. Batta, G. Stephen Tint

Journal:

Year:

1994

Language:

english

File:

PDF, 871 KB

english, 1994

20

Regulation of bile acid synthesis by deoxycholic acid in the rat: Different effects on cholesterol 7α-hydroxylase and sterol 27-hydroxylase

Sarah Shefer, Betsy T. Kren, Gerald Salen, Clifford J. Steer, Lien B. Nguyen, Thomas Chen, G. Stephen Tint, Ashok K. Batta

Journal:

Year:

1995

Language:

english

File:

PDF, 982 KB

english, 1995

21

Regulation of early cholesterol biosynthesis in rat liver: Effects of sterols, bile acids, lovastatin, and BM 15.766 on 3-hydroxy-3-methylglutaryl coenzyme A synthase and acetoacetyl coenzyme A thiolase activities

Akira Honda, Gerald Salen, Lien B. Nguyen, Guorong Xu, G. Stephen Tint, Ashok K. Batta, Sarah Shefer

Journal:

Year:

1998

Language:

english

File:

PDF, 103 KB

english, 1998

22

Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome

Hongwei Yu, Andy Wessels, Jianliang Chen, Aimee L Phelps, John Oatis, G Stephen Tint, Shailendra B Patel

Journal:

BMC Developmental Biology

Year:

2004

Language:

english

File:

PDF, 9.97 MB

english, 2004

23

Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome

Wendy Y. Craig, James E. Haddow, Glenn E. Palomaki, Richard I. Kelley, Lisa E. Kratz, Cedric H. L. Shackleton, Josep Marcos, G. Stephen Tint, Andrew R MacRae, Malgorzata J. Nowaczyk, Edward M. Kloza,

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

24

Capillary gas-liquid chromatography of 6-hydroxylated bile acids

Ashok K. Batta, Suresht K. Aggarwal, G. Stephen Tint, Manju Batta, Gerald Salen

Journal:

Journal of Chromatography A

Year:

1995

Language:

english

File:

PDF, 394 KB

english, 1995

25

Simultaneous quantitation of fatty acids, sterols and bile acids in human stool by capillary gas–liquid chromatography

Ashok K Batta, Gerald Salen, Priti Batta, G Stephen Tint, David S Alberts, David L Earnest

Journal:

Journal of Chromatography B

Year:

2002

Language:

english

File:

PDF, 182 KB

english, 2002

26

Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression

Hongwei Yu, Andy Wessels, G. Stephen Tint, Shailendra B. Patel

Journal:

Developmental Brain Research

Year:

2005

Language:

english

File:

PDF, 2.94 MB

english, 2005

27

3-Hydroxy-3-methylglutaryl-coenzyme A reductase activity is inhibited by cholesterol and up-regulated by sitosterol in sitosterolemic fibroblasts

Akira Honda, Gerald Salen, Megumi Honda, Ashok K Batta, G.Stephen Tint, Guorong Xu, Thomas S Chen, Naomi Tanaka, Sarah Shefer

Journal:

Journal of Laboratory and Clinical Medicine

Year:

2000

Language:

english

File:

PDF, 46 KB

english, 2000

28

Hypercholesterolemia Accelerates the Alzheimer's Amyloid Pathology in a Transgenic Mouse Model

Lorenzo M. Refolo, Miguel A. Pappolla, Brian Malester, John LaFrancois, Tara Bryant-Thomas, Rong Wang, G.Stephen Tint, Kumar Sambamurti, Karen Duff

Journal:

Neurobiology of Disease

Year:

2000

Language:

english

File:

PDF, 166 KB

english, 2000

29

Hypercholesterolemia Accelerates the Alzheimer's Amyloid Pathology in a Transgenic Mouse Model: Volume 7, Number 4 (2000), pages 321–331

Lorenzo M. Refolo, Miguel A. Pappolla, Brian Malester, John LaFrancois, Tara Bryant-Thomas, Rong Wang, G.Stephen Tint, Kumar Sambamurti, Karen Duff

Journal:

Neurobiology of Disease

Year:

2000

Language:

english

File:

PDF, 19 KB

english, 2000

30

Normolipemic subcutaneous xanthomatosis

Raul Fleischmajer, Ernst J. Schaefer, Andrew E. Gal, Peter G. Pentchev, G.Stephen Tint

Journal:

The American Journal of Medicine

Year:

1983

Language:

english

File:

PDF, 2.10 MB

english, 1983

31

Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: Diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme a reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function

Lien B. Nguyen, Gerald Salen, Sarah Shefer, St Stephen Tint, Virgie Shore, Gene C. Ness

Journal:

Year:

1990

Language:

english

File:

PDF, 933 KB

english, 1990

32

Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis

Vladimir M. Berginer, Shraga Shany, Daphna Alkalay, Julia Berginer, Samuel Dekel, Gerald Salen, G.Stephen Tint, Dan Gazit

Journal:

Year:

1993

Language:

english

File:

PDF, 987 KB

english, 1993

33

Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: Sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis

Lien B. Nguyen, Gerald Salen, Sarah Shefer, John Bullock, Thomas Chen, G.Stephen Tint, Indu R. Chowdhary, Susan Lerner

Journal:

Year:

1994

Language:

english

File:

PDF, 1.15 MB

english, 1994

34

Inhibition of ileal bile acid transport lowers plasma cholesterol levels by inactivating hepatic farnesoid X receptor and stimulating cholesterol 7α-hydroxylase

Hai Li, Guorong Xu, Quan Shang, Luxing Pan, Sarah Shefer, Ashok K Batta, Jaya Bollineni, G.Stephen Tint, Brad T Keller, Gerald Salen

Journal:

Year:

2004

Language:

english

File:

PDF, 284 KB

english, 2004

35

Hydrophilic 7β-hydroxy bile acids, lovastatin, and cholestyramine are ineffective in the treatment of cerebrotendinous xanthomatosis

Ashok K Batta, Gerald Salen, G.Stephen Tint

Journal:

Year:

2004

Language:

english

File:

PDF, 91 KB

english, 2004

36

Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse

Curzio Solcà, Bhaswati Pandit, Hongwei Yu, G. Stephen Tint, Shailendra B. Patel

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 189 KB

english, 2007

37

Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith–Lemli–Opitz syndrome

Gongyi Ren, Robert F. Jacob, Yuri Kaulin, Paul, DiMuzio, Yi Xie, R. Preston Mason, G. Stephen Tint, Robert D. Steiner, Jean-Baptiste Roullet, Louise Merkens, Diana Whitaker-Menezes, Philippe G. Frank,

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 978 KB

english, 2011

38

Sitosterolemia: opposing effects of cholestyramine and lovastatin on plasma sterol levels in a homozygous girl and her heterozygous father

Margaret M. Cobb, Gerald Salen, G.Stephen Tint, Joshua Greenspan, Lien B. Nguyen

Journal:

Year:

1996

Language:

english

File:

PDF, 764 KB

english, 1996

39

Relationship between abnormal cholesterol synthesis and retarded learning in rats

Guorong Xu, Richard J. Servatius, Sarah Shefer, G.Stephen Tint, W.Timothy O'Brien, Ashok K. Batta, Gerald Salen

Journal:

Year:

1998

Language:

english

File:

PDF, 514 KB

english, 1998

40

Comparative regulation of hepatic sterol 27-hydroxylase and cholesterol 7α-hydroxylase activities in the rat, guinea pig, and rabbit: Effects of cholesterol and bile acids

Lien B. Nguyen, Guorong Xu, Sarah Shefer, G.Stephen Tint, Ashok Batta, Gerald Salen

Journal:

Year:

1999

Language:

english

File:

PDF, 816 KB

english, 1999

41

Effect of YM 9429, a potent teratogen, on cholesterol biosynthesis in cultured cells and rat liver microsomes

Akira Honda, G.Stephen Tint, Sarah Shefer, Ashok K. Batta, Megumi Honda, Gerald Salen

Journal:

Year:

1996

Language:

english

File:

PDF, 445 KB

english, 1996

42

Synthesis of [3α-3H]7-dehydrocholesterol via stable tritiated 4-phenyl-1,2,4-triazoline-3,5-dione derivative

Ashok K. Batta, Gerald Salen, G.Stephen Tint, Akira Honda, Sarah Shefer

Journal:

Year:

1997

Language:

english

File:

PDF, 345 KB

english, 1997

43

A convenient synthesis of dinorbile acids: : Oxidative hydrolysis of norbile acid nitriles☆

Ashok K. Batta, Subhash C. Datta, G.Stephen Tint, David S. Alberts, David L. Earnest, Gerald Salen

Journal:

Year:

1999

Language:

english

File:

PDF, 72 KB

english, 1999

44

Macrophage 3-hydroxy-3-methylglutaryl coenzyme a reductase activity in sitosterolemia: Effects of increased cellular cholesterol and sitosterol concentrations

Lien B. Nguyen, Gerald Salen, Sarah Shefer, G.Stephen Tint, Frank Ruiz

Journal:

Year:

2001

Language:

english

File:

PDF, 79 KB

english, 2001

45

Plant stanol fatty acid esters inhibit cholesterol absorption and hepatic hydroxymethyl glutaryl coenzyme a reductase activity to reduce plasma levels in rabbits

Guorong Xu, Gerald Salen, Sarah Shefer, G.Stephen Tint, Lien B. Nguyen, A.K. Batta, Mark Pcolinsky

Journal:

Year:

2001

Language:

english

File:

PDF, 76 KB

english, 2001

46

Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766

Guorong Xu, Gerald Salen, Sarah Shefer, Gene C. Ness, Thomas S. Chen, Zhihong Zhao, Louis Salen, G.Stephen Tint

Journal:

Gastroenterology

Year:

1995

Language:

english

File:

PDF, 750 KB

english, 1995

47

The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis

Lien B. Nguyen, Sarah Shefer, Gerald Salen, Ivan Horak, G.Stephen Tint, Donald J. McNamara

Journal:

Year:

1988

Language:

english

File:

PDF, 752 KB

english, 1988

48

FXR is the dominant regulator of CYP7A1 in the rat

Guorong Xu, Luxing Pan, Quan Shang, Hai Li, Stephen Tint, Gerald Salen

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 179 KB

english, 2003

49

CYP7A1 is inhibited by activated FXR via SHP and LRH-1 in cholesterol-fed rabbits

Guorong Xu, M Ananthanarayanan, Barry Mark Forman, Xiaogui Li, Sarah Shefer, John Y.L. Chiang, G Stephen Tint, Gerald Salen

Journal:

Gastroenterology

Year:

2001

Language:

english

File:

PDF, 189 KB

english, 2001

50

Abnormal Hepatic Sinusoidal Bile Acid Transport in an Amish Kindred Is Not Linked to FIC1 and Is Improved by Ursodiol

D.Holmes Morton*, Gerald Salen‡, §, A.K. Batta‡, Sarah Shefer‡, G.Stephen Tint‡, §, Deborah Belchis‖, Benjamin Shneider¶, Erik Puffenberger*, Laura Bull#, A.S. Knisely**

Journal:

Gastroenterology

Year:

2000

Language:

english

File:

PDF, 345 KB

english, 2000

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